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Forensic Science International: Genetics Supplement Series(5)
BMC Medical Genomics(1)
Frontiers in Cardiovascular Medicine(1)
Molecular Genetics and Genomic Medicine(1)
Pharmacogenomics Journal(1)
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: A case report
ArticleAbstract: Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal rPalabras claves:CIPA, ecuadorian, Genomics analysis, Native American, NTRK1Autores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Echeverría B.A., Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusAllele frequency data for 15 autosomal strs and ancestral proportions using aims-indels in the shuar ethnic group from Ecuador
ArticleAbstract: The ethnic group Shuar is located in Ecuador. To identify their genetic composition, 46 ancestry-infPalabras claves:AIM-Indels, ECUADOR, shuar, STRsAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, D. Maldonado-Oyervide, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, O. Astudillo-González, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusGenes involved in damage response caused by UV radiation in Ecuadorian population of different altitude regions
ArticleAbstract: Ecuador has various regions at different altitudes. It is known that at high altitudes, organisms exPalabras claves:altitude, ECUADOR, UV radiation, XPC, XPD, XPGAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusGenetic variation of high-altitude Ecuadorian population using autosomal STR markers
ArticleAbstract: Fifteen autosomal STRs were analyze in order to elucidate the differences between low and high landPalabras claves:Genetic distances, Highland Ecuadorian populationAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Anibal Gaviria, Cesar Paz-y-Miño, Cristina Rodríguez-Pólit, Fiallos G., Gruezo C., Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Margarita Vela, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusGenomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
ArticleAbstract: Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide rangPalabras claves:Cardiovascular disease, genome, LMNA, NGS, Precision MedicineAutores:Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Castillo R., Ibarra-Rodríguez A.A., Laso-Bayas J.L., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusMolecular variants associated with flavor perceptions and ancestral proportions of Ecuadorian populations
ArticleAbstract: The perception of taste is determined by several factors, including genetics, which at the same timePalabras claves:Bitter, ECUADOR, Salty, Sweet, Taste perceptionAutores:A. C. Cárdenas Figueroa, Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, M. E. Dávalos, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusMulti-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
ArticleAbstract: Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnosePalabras claves:chromosome alterations, chromosome polymorphisms, Cytogenetics, Genetic testingAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Arianne Llamos Paneque, Burgos R.I., Cesar Paz-y-Miño, Cruz F., Echeverría-Garcés G., Garzón-Castro M., Guapi N V.H., Isaac Armendáriz-Castillo, Jenny Álvarez Vidal, Jennyfer M. García-Cárdenas, Jiménez Torres I., Juan Carlos Ruiz-Cabezas, Lamar-Segura E., Licuy P., Martha Montalván, Meneses Álvarez S., Moreta G., Naranjo M.E., Ocampo L., Ochoa Pérez C., P. Guevara-Ramírez, Paola E. Leone, Paredes R., Porras-Borja F., Ramón Miguel Vargas-Vera, Recalde-Báez M.A., Ruiz M., Santiago Xavier Guerrero, Sinche M., Tambaco Jijón N., Verónica YumicebaFuentes:googlescopusMitochondrial DNA study in the Shuar ethnic group from Ecuador
ArticleAbstract: This study presents mitochondrial data from 55 unrelated individuals from two Ecuadorian Shuar commuPalabras claves:ECUADOR, Haplogroup B, mitochondrial DNA, shuarAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, D. Maldonado-Oyervide, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, O. Astudillo-González, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusPharmacogenomics, biomarker network, and allele frequencies in colorectal cancer
ReviewAbstract: Colorectal cancer is one of the leading causes of cancer death worldwide. Over the last decades, sevPalabras claves:Autores:Andrés López-Cortés, Ángela León-Cáceres, Cayún J.P., Cesar Paz-y-Miño, Dámaris P. Intriago-Baldeón, Gabriela Fernanda Jaramillo-Koupermann, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Quiñones L.A., Santiago Xavier Guerrero, Soria N.W.Fuentes:googlescopusThe three-hybrid genetic composition of an Ecuadorian population using AIMs-InDels compared with autosomes, mitochondrial DNA and Y chromosome data
ArticleAbstract: The history of Ecuador was marked by the arrival of Europeans with Africans, resulting in the mixturPalabras claves:Autores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Anibal Gaviria, Cesar Paz-y-Miño, Cobos-Navarrete S., Cristina Rodríguez-Pólit, Fiallos G., Gruezo C., Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Margarita Vela, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopus